5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
clinical findings ... Signs/Symptoms ... /Complications: ... fractures • Short ... #genetics #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings ... > Keratoconus Signs ... / Symptoms / Complications ... Ring • Munson's sign ... • Rizutti's Sign
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
clinical findings ... Retinoblastoma Signs ... / Symptoms / Complications ... #ophthalmology ... #diagnosis #signs
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
clinical findings ... #Retinopathy #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms #complications
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... extensors of the arms (pyramidal ... Hyperreflexia develops later ... signs and/or symptoms